A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa

• Main Authors: Renske T.W. Schellens (Author), Sanne Broekman (Author), Theo Peters (Author), Pam Graave (Author), Lucija Malinar (Author), Hanka Venselaar (Author), Hannie Kremer (Author), Erik De Vrieze (Author), Erwin Van Wijk (Author)
• Format: Book
• Published: Elsevier, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Loss-of-function mutations in USH2A are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). We previously presented skipping of USH2A exon 13 as a promising treatment paradigm for USH2A-associated RP. However, RP-associated mutations are often private, and evenly d...